Variant report

Variant	rs12318343
Chromosome Location	chr12:29286432-29286433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11050001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050015	1.00[EUR][1000 genomes]
rs11050022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834972	1.00[EUR][1000 genomes]
rs12298807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305958	1.00[EUR][1000 genomes]
rs12306317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12308307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313631	1.00[EUR][1000 genomes]
rs12314772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315255	1.00[EUR][1000 genomes]
rs12316813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319491	1.00[EUR][1000 genomes]
rs12319668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235020	1.00[EUR][1000 genomes]
rs59858313	1.00[EUR][1000 genomes]
rs67200761	1.00[EUR][1000 genomes]
rs73061729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73061748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73061899	1.00[EUR][1000 genomes]
rs73063608	1.00[EUR][1000 genomes]
rs73063634	1.00[EUR][1000 genomes]
rs73063636	1.00[EUR][1000 genomes]
rs73063639	1.00[EUR][1000 genomes]
rs73063778	1.00[EUR][1000 genomes]
rs73063781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063783	1.00[EUR][1000 genomes]
rs73065614	1.00[EUR][1000 genomes]
rs73065622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73065637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067752	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73068496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73070476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073782	1.00[AMR][1000 genomes]
rs73073797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075593	1.00[EUR][1000 genomes]
rs73077508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077524	1.00[EUR][1000 genomes]
rs73077528	1.00[EUR][1000 genomes]
rs73077530	1.00[EUR][1000 genomes]
rs73077591	1.00[EUR][1000 genomes]
rs73077598	1.00[EUR][1000 genomes]
rs73079508	1.00[EUR][1000 genomes]
rs73079510	1.00[EUR][1000 genomes]
rs73079530	1.00[EUR][1000 genomes]
rs7966961	1.00[EUR][1000 genomes]
rs7980369	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv819469	chr12:29285461-29303486	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29285800-29286800	Weak transcription	Osteobl	bone
2	chr12:29286000-29286800	Enhancers	NHEK	skin
3	chr12:29286000-29287200	Enhancers	HMEC	breast
4	chr12:29286400-29286800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:29286400-29287000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:29286400-29287200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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